Incidental Mutation 'R5262:Ankdd1b'
ID401522
Institutional Source Beutler Lab
Gene Symbol Ankdd1b
Ensembl Gene ENSMUSG00000047117
Gene Nameankyrin repeat and death domain containing 1B
Synonyms9330128J19Rik
MMRRC Submission 042857-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R5262 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location96416134-96471198 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 96420773 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 384 (R384L)
Ref Sequence ENSEMBL: ENSMUSP00000061643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055607] [ENSMUST00000099295]
Predicted Effect probably damaging
Transcript: ENSMUST00000055607
AA Change: R384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061643
Gene: ENSMUSG00000047117
AA Change: R384L

DomainStartEndE-ValueType
ANK 4 33 2.54e-2 SMART
ANK 37 66 6.36e-3 SMART
ANK 70 101 5.09e-2 SMART
ANK 105 137 1.07e0 SMART
ANK 138 167 1.27e-2 SMART
ANK 171 200 3.65e-3 SMART
ANK 204 233 2.99e1 SMART
ANK 237 266 4.07e-1 SMART
ANK 270 299 6.92e-4 SMART
ANK 303 335 1.76e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099295
SMART Domains Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671

DomainStartEndE-ValueType
coiled coil region 175 206 N/A INTRINSIC
coiled coil region 300 341 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
low complexity region 418 433 N/A INTRINSIC
low complexity region 436 456 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222792
Meta Mutation Damage Score 0.1388 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,496,764 D821V possibly damaging Het
Ces1e A G 8: 93,223,958 F65S probably damaging Het
Cfap53 A C 18: 74,329,459 S425R probably benign Het
Corin A G 5: 72,304,955 V837A probably damaging Het
Cyp2d34 A T 15: 82,618,371 V188E probably damaging Het
Defb26 A T 2: 152,507,958 M134K unknown Het
Dnah10 A C 5: 124,785,156 K2158N probably damaging Het
Dnah9 C T 11: 66,112,333 V882M probably benign Het
Dpyd C A 3: 118,797,422 Y186* probably null Het
Elovl1 G A 4: 118,430,927 probably benign Het
Fars2 T A 13: 36,342,018 I329N probably damaging Het
Gstm1 T A 3: 108,016,363 M109L probably benign Het
Gtf2e1 T C 16: 37,535,931 T80A probably damaging Het
Gtf2h2 A G 13: 100,481,848 probably benign Het
Hrh4 G T 18: 13,015,813 L77F probably damaging Het
Ifi47 A G 11: 49,095,732 T109A probably benign Het
Igsf5 G T 16: 96,391,037 E179* probably null Het
Ints8 A G 4: 11,211,916 I885T probably damaging Het
Iqgap1 T G 7: 80,726,742 I1341L probably benign Het
Kmt2b A G 7: 30,569,794 L2567P probably damaging Het
Lilrb4a T C 10: 51,493,207 probably null Het
Maip1 G A 1: 57,406,972 R67H probably damaging Het
Muc6 T A 7: 141,651,110 I254F possibly damaging Het
Nfkb1 A T 3: 135,612,412 probably null Het
Nlrp4a T C 7: 26,459,811 probably null Het
Nrap A T 19: 56,320,223 I1477N possibly damaging Het
Pdgfa A G 5: 138,993,294 S52P probably benign Het
Pou1f1 G T 16: 65,531,982 E196* probably null Het
Ppp2r5e G A 12: 75,593,271 R19W probably damaging Het
Ptn T A 6: 36,744,484 Q7L probably benign Het
Rbp3 G T 14: 33,954,850 A252S probably damaging Het
Rcor2 G T 19: 7,274,061 V313L probably damaging Het
Rtp3 A T 9: 110,986,127 probably benign Het
Ryr2 T C 13: 11,772,437 T1017A probably damaging Het
Scgb2b11 T C 7: 32,209,351 N108S probably benign Het
Sgo2b C A 8: 63,943,137 L28F probably damaging Het
Shroom3 A G 5: 92,964,573 E1850G probably damaging Het
Slc16a14 A G 1: 84,912,891 L231P probably benign Het
Slfn5 A G 11: 82,956,670 E127G possibly damaging Het
Snx16 C T 3: 10,437,832 M118I probably damaging Het
Snx21 T C 2: 164,791,821 F176L probably damaging Het
Tap2 A G 17: 34,214,016 N424S probably benign Het
Tcf7l1 T C 6: 72,636,466 probably benign Het
Trappc8 C T 18: 20,818,190 V1400I probably benign Het
Trim58 T C 11: 58,651,668 Y485H possibly damaging Het
U2af1l4 C T 7: 30,564,213 T65I probably benign Het
Ufl1 G T 4: 25,251,294 probably benign Het
Usp8 A G 2: 126,751,111 N762S probably damaging Het
Virma A T 4: 11,539,926 D1465V probably benign Het
Vmn1r48 A T 6: 90,036,034 S270T probably benign Het
Vrk2 T A 11: 26,591,697 Y9F possibly damaging Het
Wwp1 A G 4: 19,631,057 F659L probably damaging Het
Zbtb24 C T 10: 41,464,560 Q529* probably null Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,982,827 probably benign Het
Other mutations in Ankdd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ankdd1b APN 13 96417830 unclassified probably benign
IGL00849:Ankdd1b APN 13 96420733 missense probably damaging 1.00
IGL02805:Ankdd1b APN 13 96444302 missense probably benign
IGL02980:Ankdd1b UTSW 13 96435940 missense probably benign 0.01
R1454:Ankdd1b UTSW 13 96433405 splice site probably null
R1730:Ankdd1b UTSW 13 96460903 missense probably damaging 0.99
R1759:Ankdd1b UTSW 13 96419703 missense probably damaging 1.00
R4716:Ankdd1b UTSW 13 96454583 nonsense probably null
R4719:Ankdd1b UTSW 13 96417747 unclassified probably benign
R6329:Ankdd1b UTSW 13 96454880 missense possibly damaging 0.76
R6418:Ankdd1b UTSW 13 96460897 missense probably damaging 1.00
R6869:Ankdd1b UTSW 13 96444291 missense possibly damaging 0.77
R7126:Ankdd1b UTSW 13 96429862 missense possibly damaging 0.93
R7442:Ankdd1b UTSW 13 96424760 missense possibly damaging 0.77
R7840:Ankdd1b UTSW 13 96419798 critical splice acceptor site probably null
R7923:Ankdd1b UTSW 13 96419798 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCAGACTGAGCCATGCTAAC -3'
(R):5'- GGTGACAAGTGAGCATTTTAGAGTC -3'

Sequencing Primer
(F):5'- ATGCTAACTACCCCTATTGCAGTGAC -3'
(R):5'- GCATTTTAGAGTCAATAGCTACTGC -3'
Posted On2016-07-06